Abstract
The WT1 gene was analysed using DNA from a Wilms' tumour derived from a patient with the WAGR syndrome using single strand conformation polymorphism analysis and polymerase chain reaction sequencing. A 14-bp insertion was found in the intron part of the splice donor site of exon 7 and was a tandem duplication of an upstream exon sequence. This mutation would be expected to disrupt the correct processing of the WT1 mRNA and is predicted to result in a non-functional protein. This observation further supports the role of WT1 in Wilms' tumorigenesis in patients with constitutional 11p13 deletions.
Original language | English (US) |
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Pages (from-to) | 83-86 |
Number of pages | 4 |
Journal | Human Genetics |
Volume | 92 |
Issue number | 1 |
DOIs | |
State | Published - Aug 1993 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)